IDAHO STATS

US incidence of all these disorders is about 1 in 900; Idaho incidence is 1 in 1000.

Idaho births number more than 24,000 per year; with this number, 26 confirmed disorders are expected each year.  Last year 24 were identified.

Idaho requires one test unless parents decline; a second test is also recommended.

NOTE:  These are screening tests and must be followed by diagnostic tests and actual diagnosis of the disorder.

NEW TEST

TANDEM MASS SPECTROMETRY (MS/MS) detects a number of disorders; others are detected by the older by the more time-consuming testing process.

RECOMMENDED TESTING SCHEDULE

1.        24 – 48 hours of age; detects 90% of disorders; 10% not detected in this screening.  (disorder specific range:  20 – 100% ; for example, this test detects as few as 20% of babies with homocystinuria and 100% of babies with MSUD)

2.       10 – 14 days of life; detects 10 – 15% of disorders.  (disorder specific range:  0 – 100%)

REASONING

1.  First screening:   About 2 dozen disorders kill or maim infants in the first week of life; these are neonatal emergencies and would be detected in the early test.  Typically, these infants are born normal and remain healthy for the first 24 – 72 hours or so of life.  After this point, they may refuse food, vomit, become excessively sleepy, then comatose, and die from hyperammonemia or acidosis.  

The best screening window for fatty acid oxidation disorders is 0 – 48 hours or when not feeding well.  In the fatty acid oxidation disorder, MCAD or MCADD (medium chain acyl-CoA dehydrogenase deficiency), the individual is unable to metabolize medium chain fatty acids.  Symptoms are triggered by a common illness and/or a period of fasting, which results in hypoketotic hypoglycemia.  In 18%, sudden death is the first sign, and up to 50% die in the first episode.  Symptoms may present any time from birth through adulthood.  One young woman had one hypoglycemic episode at 2 years, but was not diagnosed.  As a young adult, she went mountain climbing with friends, but took no food with her.  She was dead in 3 hours—completely preventable!  If this disorder ever shows up in a newborn screening, siblings and parents should also be screened.

2.  Second screening:  Some 6 – 10 disorders are not obvious in the first week of life, and either not always picked up  or not identified at all in the first screening.   The best screening window for homocystinurea is 3 – 15 days, and 45% of these are detected in the second screening.

In 10% of affected infants, congenital hypothyroidism (an endocrine disorder) is identified in the second screening only, with the first screening being normal.  If untreated, symptoms of this disorder are generally not seen until three months or older.  However, long before this time the brain is damaged and mental retardation has begun.  This is the most common disorder found in Idaho babies. 

Newborn screening and treatment is life saving for infants with sickle cell disease, galactosemia, congenital adrenal hyperplasia, organic acidemias, urea cycle defects.  Normal outcome depends on early diagnosis and treatment.

CAREGIVER RESPONSIBILITIES

Use a scalpel type blade to open an adequate capillary bed.  Collect the specimen, filling the circles from one side of the filter paper only. 

Fill circles completely.  Neatness doesn’t count!

Don’t superimpose drops on each other and do not milk the heel.  Re-stick if blood is not flowing freely. 

Dry specimen 2 – 4 hours out of direct light.

Mail daily; do not save specimens and mail several days’ worth at once.

Filling three circles completely is better than filling four partially.  Twelve 1/8” circles are punched out and are adequate to complete all testing. 

If results are not received within two weeks, contact the State Lab; the specimen may have been lost in the mail.

You can sign up for WEB-RAD to get results online:  call 503-229-5882 (State Lab).

Educate parents beforehand and communicate results afterwards.  In case of a positive test, follow up promptly and appropriately.

INFORMED CONSENT/INFORMED CHOICE

In this setting, informed choice and informed consent refer to the rights and responsibilities of parents to learn about the options available to them and to participate in healthcare decisions for their children and themselves.

As midwives and professional healthcare providers, it means we have a responsibility to educate the parents we care for, giving them full information regarding newborn screening.   In fact, caregivers greatly influence the decision of parents.  The challenge is to present the information in a positive way, setting our own biases aside.  Just because I may feel that two screenings are not necessary, that does not give me the right to make that decision for my parents.  This is a decision they must make for themselves.  They are the ones who will care for their child in the event he is found to have a disorder.  Informed choice applies to all other aspects of the care we provide as well.

If a parent does refuse the newborn screening, he should sign an informed choice/consent release form, whether for the initial and/or the second screening.  This provides a limited amount of liability protection to the provider.  For a copy of the informed choice I use, contact me at midwife8269@aol.com.

The Oregon State Public Health Lab’s newborn screening information may be accessed at http://www.oregon.gov/DHS/ph/phl/.

MANY THANKS go to Judi Tuerck and Mitch Scoggins for the excellent workshop they presented on this topic at the Idaho Perinatal Project Conference in Boise in February 2008.

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